Canonical Allele Identifier: CA377115713

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2162834
• ClinVar RCV Id: RCV003070445
• dbSNP Id: rs1427868949
• gnomAD v2: 10-73121965-C-T
• gnomAD v4: 10-71362208-C-T
• MyVariant Identifiers: chr10:g.73121965C>T (hg19) ; chr10:g.71362208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362208C>T , CM000672.2:g.71362208C>T	GRCh38
NC_000010.10:g.73121965C>T , CM000672.1:g.73121965C>T	GRCh37
NC_000010.9:g.72791971C>T	NCBI36
NG_017066.1:g.47956C>T
NG_017066.2:g.47950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2504C>T
ENST00000373189.6:c.1028C>T MANE Select	ENSP00000362285.5:p.Thr343Ile
ENST00000479577.2:c.794C>T	ENSP00000493995.1:p.Thr265Ile
ENST00000642198.1:c.*600C>T	ENSP00000494827.1:n.*600C>T
ENST00000642772.1:c.*94+5965C>T	ENSP00000495041.1:n.*94+5965C>T
ENST00000643042.1:c.649C>T	ENSP00000496674.1:n.649C>T
ENST00000643619.1:c.*611C>T	ENSP00000494378.1:n.*611C>T
ENST00000643752.1:c.*354C>T	ENSP00000495000.1:n.*354C>T
ENST00000644088.1:c.*349C>T	ENSP00000494066.1:n.*349C>T
ENST00000644591.1:c.*354C>T	ENSP00000496664.1:n.*354C>T
ENST00000644895.1:c.*99+5965C>T	ENSP00000493872.1:n.*99+5965C>T
ENST00000645345.1:c.*600C>T	ENSP00000495859.1:n.*600C>T
ENST00000647524.1:c.*611C>T	ENSP00000495077.1:n.*611C>T
ENST00000373189.5:c.1028C>T	ENSP00000362285.5:p.Thr343Ile
ENST00000469204.1:n.525C>T
NM_001174098.1:c.*257C>T	NP_001167569.1:n.*257C>T
NM_018344.5:c.1028C>T	NP_060814.4:p.Thr343Ile
NR_033413.1:n.1002C>T
NR_033414.1:n.775C>T
XM_006717910.2:c.794C>T	XP_006717973.1:p.Thr265Ile
NM_001363518.1:c.794C>T	NP_001350447.1:p.Thr265Ile
XM_017016377.2:c.590C>T	XP_016871866.1:p.Thr197Ile
XM_017016378.2:c.410C>T	XP_016871867.1:p.Thr137Ile
NM_018344.6:c.1028C>T MANE Select	NP_060814.4:p.Thr343Ile
NM_001174098.2:c.*257C>T	NP_001167569.1:n.*257C>T
NM_001363518.2:c.794C>T	NP_001350447.1:p.Thr265Ile
NR_033413.2:n.996C>T
NR_033414.2:n.769C>T